List of variants in gene combination COL4A3, MFF-DT reported by Medical Genetics, University of Parma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)	rs773515249	0.00001
NM_000091.5(COL4A3):c.2488_2488+2del	rs1363058249	0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)	rs202147112	0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)	rs778886174	0.00001
NM_000091.5(COL4A3):c.1084C>T (p.Pro362Ser)	rs767943108
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val)	rs773317939
NM_000091.5(COL4A3):c.2489-1G>A	rs1574782406
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)	rs759043857
NM_000091.5(COL4A3):c.3882+5G>A	rs1553764454
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)	rs2073401281
NM_000091.5(COL4A3):c.4235G>T (p.Gly1412Val)	rs2073446714

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.